Phenotype #0000305770

Individual ID 00413805
Associated disease -
Phenotype details VA(RE-LE): 3/36–3/60; Bilateral macular atrophy; attenuated retinal vessels and peripheral areas ofatrophy (fig 4); Bilateral decreased AF corresponding to atrophy seen on ophthalmoscopy with a surrounding ring ofrelative increased AF; Markedly reduced cone and absent rod responses ; Absent PERG; Bilateral medium protan, deutan and tritan defects
Diagnosis/Initial cone-rod dystrophy (CORD7)
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 68y (68 years)
Age/Diagnosis -
Age/Onset 33y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-07-22 03:34:11 +02:00 (CEST)
Date last edited N/A

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